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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
228407285
C
T
OBSCN
c.2914C>T
p.Arg972Cys
rs61537173
chr1
228402121
A
G
OBSCN
c.1505A>G
p.Gln502Arg
rs1771487
chr1
228399671
G
A
OBSCN
c.187G>A
p.Asp63Asn
rs117484136
chr1
155880573
C
G
RIT1
c.31G>C
p.Glu11Gln
rs493446
chr1
120572572
C
T
NOTCH2
c.112G>A
p.Glu38Lys
rs61788901
chr1
120572547
T
C
NOTCH2
c.137A>G
p.Asn46Ser
rs61788900
chr1
103379918
G
A
COL11A1
c.4004C>T
p.Pro1335Leu
rs3753841
chr1
103354138
A
G
COL11A1
c.4639T>C
p.Ser1547Pro
rs1676486
chr1
55529187
G
A
PCSK9
c.2009G>A
p.Gly670Glu
rs505151
chr1
55524237
G
A
PCSK9
c.1420G>A
p.Val474Ile
rs562556
chr1
22207235
T
C
HSPG2
c.1915A>G
p.Met639Val
rs1874792
chr1
22206649
T
C
HSPG2
c.2297A>G
p.Asn766Ser
rs989994
chr1
22191454
G
A
HSPG2
c.4511C>T
p.Ala1504Val
rs897471
chr1
5935162
A
T
NPHP4
c.2818-2T>A
.
rs1287637
chr1
3328358
T
C
PRDM16
c.1597T>C
p.Ser533Pro
rs870124
CHR
POS
REF
ALT
Gene_Name
HGVS.c
HGVS.p
dbSNP142_ID
chrX
76937963
G
C
missense_variant
ATRX
c.2785C>G
p.Gln929Glu
chrX
44929077
C
A
missense_variant
KDM6A
c.2333C>A
p.Thr778Lys
chr22
19766782
C
T
missense_variant
TBX1
c.1049C>T
p.Thr350Met
chr22
19754091
A
C
missense_variant
TBX1
c.1189A>C
p.Asn397His